Generation genome and the opportunities for screening programmes – Public Health England

The report briefly defines genome sequencing and how, by improving our understanding of genetic activity, we can determine how best to use genetics in screening. This report explores how genomic technologies can help us to improve screening programmes, and opportunities

Fixing the present, building for the future: newborn screening for rare conditions – Genetic Alliance UK

This report contains recommendations to adapt decision making to fit rare diseases, to embrace the potential of screening as a rare disease identification system, and to take advantage of developments in technology.

Genome sequencing and the NHS: the views of rare disease patients and carers – Genetic Alliance UK

Genetic Alliance UK report commissioned by Genomics England  to seek the views of patients and carers around the introduction of whole genome sequencing (WGS) into the NHS. They also wanted to hear about people’s experiences of taking part in the

Chief Medical Officer annual report 2019: Partnering for progress – Department of Health and Social Care

Latest Chief Medical Officer’s report considers current and future UK engagement with global health.  The report consists of 21 letters from global health leaders to the Chief Medical Officer and their rsponse, responding summary, recommendations and epilogue. The report publishes

Genomic Services and Development Unit User Manual – Public Health England National Infection Service

Information on the genomic services and development unit (GSDU) and the DNA sequencing services it provides to laboratories.  GSDU provides genomic services including next generation sequencing, Sanger sequencing and fragment analysis.

The Topol Review: Preparing the healthcare workforce to deliver the digital future: An independent report on behalf of the Secretary of State for Health and Social Care – Health Education England

Within 20 years, 90% of all jobs in the NHS will require some element of digital skills. Staff will need to be able to navigate a data-rich healthcare environment. All staff will need digital and genomics literacy. This Review is about both

Legal Barriers to the Better Use of Health Data to Deliver Pharmaceutical Innovation – Office for Health Economics

This report summarise research evaluating the main legal barriers to the better use of health data for pharmaceutical innovation. Issues are evaluated according to barriers arising in utilising data to support key activities across the lifecycle of a medicine: epidemiology

Implementing pathogen genomics: a case study – Public Health England

This case study outlines the process undertaken by Public Health England (PHE) to establish the central WGS service. It also outlines the transformation of a national bacteriology reference laboratory into a genomics-led service.  This includes: changes in workflows working practices and revisions to

Government Response to the House of Commons Science and Technology Committee’s Third Report of Session 2017-19, ‘Genomics and Genome Editing in the NHS’ – Department of Health and Social Care

Genomics is the study of a person’s entire DNA sequence. It has the potential to transform medical care and improve patient outcomes across the world and in the NHS. This response to the House of Commons Science and Technology Committee’s

Genomics and genome editing in the NHS: Third Report of Session 2017–19: Report, together with formal minutes relating to the report – House of Commons Science and Technology Committee

Genomics has the potential to transform medical care across the world and in the NHS as well as dramatically improve patient outcomes in the UK and globally. The UK is considered to be a world leader in the development of Genomics.  The

The Topol Review: Preparing the healthcare workforce to deliver the digital future: Interim Report June 2018 – A Call For Evidence

Review of how the workforce needed to be prepared to work with new technologies. The interim report proposes three key themes and three guiding principles and calls for evidence to inform the final report. Themes: Genomics Digital Medicine AI and

Developing a Consensus on Data Sharing to Support NHS Clinical Genetics and Genomics Services – National Data Guardian

Outlines the key issues arising from an evidence session which was held to explore whether and how the NDG might help to address concerns about the legitimacy of genomic data sharing within the NHS for direct care and routine service delivery.

Annual Report of the Chief Medical Officer 2016: Generation Genome – Department of Health

Annual CMO report that  looks at genomics, exploring how they are currently utilises the health and care system and how its potential may be developed. Topics covered include the care and treatment of cancer, diagnosing rare diseases, the use of genomics in screening and ‘personalised’ prevention,